远端型小窝蛋白病患者的临床、病理及基因研究  

Clinical, myopathological and genetic research of a patient with distal myopathy caused by caveolin-3 deficiency

作　　者：陈涓涓[1] 曾文双[1] 韩春锡[1] 吴军[1] 童晓欣[1] 张海鸥[1] 

机构地区：[1]北京大学深圳医院神经内科,518036

出　　处：《中华神经科杂志》2015年第9期786-790,共5页Chinese Journal of Neurology

摘　　要：目的 报道1例远端型小窝蛋白病患者,并研究其临床、病理及基因特点.方法 患者为27岁女性,以双下肢非对称起病,逐渐累及近端肢带肌.收集并总结该患者临床资料,行双侧下肢MRI检查.对患者左侧胫前肌行活体组织病理检查.同时对患者及其父母行小窝蛋白-3（caveolin-3,CAV3）基因检测.结果 患者双下肢MRI T1WI加权像增强结果提示远端肌群及近端肌群均存在异常信号影.骨骼肌病理检查发现光镜下呈中度肌营养不良样改变,免疫组织化学染色可见CAV3蛋白表达下降.患者存在CAV3基因c.136G＞ A（p.Ala46Thr）杂合突变,而该患者父母基因检测未见该突变.结论 我们报道1例由CAV3基因c.136G＞ A（p.Ala46Thr）杂合突变引起的以下肢非对称起病合并近端肢带肌受累的远端型小窝蛋白病,为临床医生进一步认识该罕见疾病提供依据.Objective To report the clinical,myopathological and genetic features of a patient with distal myopathy caused by caveolin-3 （CAV3） deficiency.Methods The patient was a 27-year-old female.She had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdle muscles were involved subsequently.Clinical data of this patient were collected.The leg muscle magnetic resonance imaging （MRI） and an open biopsy of left tibialis anterior muscle were performed.In addition to histological,enzyme histochemical staining and ultrastructural examination,immunohistochemical staining with antibody against CAV3 was done.CAV3 gene was analyzed in the patient and her parents.Results Tl-weighted enhanced skeletal muscle MRI of the lower limbs showed the abnormal signal in distal and proximal muscles.Muscle biopsy showed moderate dystrophic changes and immunostaining for CAV3 showed reduced plasmalemma in the muscle fibers.Gene analysis disclosed a heterozygous c.136G 〉 A （p.Ala46Thr）mutation in the CAV3 gene,and the patient＇s parents did not have this mutation.Conclusions We report a distal myopathy case caused by c.136G 〉 A （p.Ala46Thr） mutation in the CAV3 gene,who had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdal muscles were also involved.This would help clinical doctors to know more about this rare myopathy.

关 键 词：远端型肌营养不良症 小窝蛋白3 活组织检查 基因检测 

分 类 号：R746.2[医药卫生—神经病学与精神病学]